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A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction

BACKGROUND: Four patients from three Norwegian families presented with a common skin phenotype of warts, molluscum contagiosum, and dermatitis since early childhood, and various other immunological features. Warts are a common manifestation of human papilloma virus (HPV), but when they are overwhelm...

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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: Sorte, Hanne S., Osnes, Liv T., Fevang, Børre, Aukrust, Pål, Erichsen, Hans C., Backe, Paul H., Abrahamsen, Tore G., Kittang, Ole B., Øverland, Torstein, Jhangiani, Shalini N., Muzny, Donna M., Vigeland, Magnus D., Samarakoon, Pubudu, Gambin, Tomasz, Akdemir, Zeynep H. C., Gibbs, Richard A., Rødningen, Olaug K., Lyle, Robert, Lupski, James R., Stray‐Pedersen, Asbjørg
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2016
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5118205/
https://ncbi.nlm.nih.gov/pubmed/27896283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.237
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